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New registry tracks pregnancy in women with rare metabolic diseases

NCT ID NCT02322177

Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 24, 2026 · Last updated Sep 17, 2026 · Updated 18 times

Summary

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to better understand how these conditions impact pregnancy and child development, without any extra tests or treatments.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this registry could help doctors better understand how inborn errors of metabolism affect pregnancy and baby health, guiding future care.
What could go wrong
This is a very small, completed registry with only 2 participants, so findings may not apply broadly. It only collects existing data, not testing new treatments.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

2 people

The number who actually took part.

Start date

Dec 2014

Finished

Aug 2018

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Participants are women with inborn errors of metabolism who have been pregnant

Ages

14 to 50 years

Sex

Female participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA: * Patients clinically diagnosed with methylmalonic acidemia or another inborn error of metabolism are eligible to participate; mutational and enzymatic status is preferred but not required. Biochemical testing is required. * Women with inborn errors of metabolism who have had a clinically documented prior pregnancy, currently are pregnant or planning a pregnancy. EXCLUSION CRITERIA: * Patients with phenylketonuria or hyperphenylalaninemia. * Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent. * Medical condition(s) or mental retardation are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk. We will make every effort to explain the study for the purpose of assent in a manner that the family feels is both age and developmentally appropriate for that child. * We will review a clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are not definitively diagnosed by metabolites and/or molecular genetics or related to our direct research interests. We expect this to be a rare minority.

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Conditions

The condition(s) this trial relates to.

inborn disorder of amino acid metabolism inborn errors of metabolism inborn organic aciduria methylmalonic acidemia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Acidemias Inborn errors of metabolism Pregnancy

Contacts and locations

Locations

  • National Human Genome Research Institute (NHGRI)

    Bethesda, Maryland, 20892, United States

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.